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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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The peripheral myelin gene PMP-22/ GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.

Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11. 2. In view of the point mutation in the gene for peripheral myelin protein pmp-22/gas-3 in Trembler mice, a murine model for CMT1A, we have analysed whether this gene is altered in CMT1A. Here we show that the human homologue of the murine pmp-22 gene is located within the CMT1A DNA duplication, which is a direct repeat and does not interrupt the coding region of PMP-22. Expression of PMP-22 in CMT1A fibroblasts is similar to expression in control fibroblasts. Increased gene dosage or altered PMP-22 expression in the peripheral nervous system are therefore possible mechanisms by which PMP-22 is involved in CMT1A.[1]

References

  1. The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Valentijn, L.J., Bolhuis, P.A., Zorn, I., Hoogendijk, J.E., van den Bosch, N., Hensels, G.W., Stanton, V.P., Housman, D.E., Fischbeck, K.H., Ross, D.A. Nat. Genet. (1992) [Pubmed]
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